News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel

News, Analysis, Trends, Management Innovations for
Clinical Laboratories and Pathology Groups

Hosted by Robert Michel
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Trends in Genomic Research That Could Impact Clinical Laboratories and Anatomic Pathology Groups Very Soon

Genomics is quickly becoming the foundational disruptor technology on which many new and powerful clinical laboratory tests and procedures will be based

Genomics testing has become accessible, affordable, and in some instances, life-saving. Clinical laboratories and pathology groups are handling more genomic data each year, and the trend does not appear to be slowing down. Here are current trends in genomic research that soon could be bringing new capabilities to medical laboratories nationwide.

Improved Data Sharing

Sometimes genetic tests don’t translate into better outcomes for patients because medical labs are limited in how they can share genomic data. Thus, experts from various disciplines are seeking ways to integrate genomic data sharing into the hospital and laboratory clinical workflow in a form that’s easily accessible to doctors. (more…)

Free Pharmacogenomics Test for Newborns Could Open Door to Wider Acceptance of Genomic Testing in Ways that Benefit Medical Laboratories

A hospital in Virginia now offers a genetic service to new parents that could impact clinical pathology laboratories if it develops into a trend

Here’s a first in the rapidly-developing field of pharmacogenomics testing. A hospital in Virginia announced that it would offer a free pharmacogenomics test to newborns. This is a development that will catch the attention of clinical pathologists and medical laboratory professionals at other hospitals across the country.

Inova Women’s Services at the Inova Woman’s Hospital on the Inova Fairfax Medical Campus in Falls Church, VA, has begun offering free MediMap tests to newborns. MediMap is a pharmacogenomics (PGx) test that looks for variations in seven genes that could indicate a child might process certain drugs differently than the majority of the population.

The program is an example of a well-known and often-used marketing tactic: “Buy X and get Y free!” Given the choice between a new free diaper bag and a free, painless test that, as Inova’s website states, “personalizes prescriptions to more effectively treat and manage illnesses in the future,” what new mother would choose the diaper bag? (more…)

Geneticist at University of California Davis Sequences His Unborn Baby’s DNA in a Global First for Whole Genome Sequencing

Prenatal genome sequencing raises ethical issues for gene sequencing labs and clinical labs, since a baby’s genetic information may present lifelong consequences for that individual

Pathologists and clinical laboratory managers will be interested to learn that another milestone in genetic testing was reached earlier this year. A geneticist at the University of California at Davis, has sequenced the whole human genome of his unborn baby, the first time this feat has been accomplished.

Notably, it was geneticist and graduate student Razib Khan of the UC Davis School of Veterinary Medicine who sequenced his unborn son’s genome during the third trimester of pregnancy using a sample of the fetus’ placenta. This is the first healthy person born in the United States with his entire genetic makeup deciphered prior to birth, noted a recent story published by the MIT Technology Review(more…)

Thomas Jefferson University Study Finds Critical Weakness in Commercially Manufactured Exome-Capture Test Kits Used by Some Medical Laboratories

The four exome test kits examined as part of this study failed to deliver quality results, particularly because they often missed some disease-causing mutations altogether

Human exome sequencing is gaining favor among medical laboratories wanting to use this information for clinical purposes. However, the accuracy of some exome-capture test kits available on the market today has come under question.

A team from the Thomas Jefferson University in Philadelphia surveyed the potential false-negative rate of mutations in 56 disease-causing genes produced by four different commercially available human exome-capture test kits. The researchers found that these test kits failed to deliver quality results, sometimes missing mutations altogether, noted a report published by Medical Daily. (more…)

Tiny Faroe Islands to Begin Sequencing Genomes of All 50,000 Residents in Ambitious Effort to Advance Personalized Medicine

Because of isolation from the worldwide DNA pool for the past 1,200 years, Faroese population is vulnerable to recessive gene disorders

Because of the dramatic—and still falling—cost of DNA sequencing, an ambitious project is launching with the goal of sequencing the full DNA of all 50,000 residents of the Faroe Islands. When completed, this project has the potential to reshape molecular diagnostics and clinical laboratory testing.

FarGen is the name of this effort and pathologists and clinical laboratory managers will want to follow its progress. Organizers of this unique effort expect that it will speed up the use of personalized medicine in mainstream medicine. This tiny, self-governing Danish land, located between Iceland and Norway, is moving forward with plans to decipher complete DNA sequences for every one of its 50,000 citizens. (more…)

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